Rabbit Monoclonal Antibody to AER61

This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N~acetylglucosamine to serine or threonine residues of extracellular~targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)~like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams~Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]